HGVS | Genome Assembly |
---|---|
NC_000019.10:g.8404689C>T , CM000681.2:g.8404689C>T | GRCh38 |
NC_000019.9:g.8469573C>T , CM000681.1:g.8469573C>T | GRCh37 |
NC_000019.8:g.8375573C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351593.9:c.-88+40317G>A | ENSP00000264073.6:n.-88+40317G>A |